Variant report

Variant	rs34135716
Chromosome Location	chr11:57106529-57106530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57070443..57073281-chr11:57104289..57106679,2	MCF-7	breast:
2	chr11:57104191..57107029-chr11:57508169..57510390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10792086	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792088	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792089	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792091	0.92[ASN][1000 genomes]
rs10896598	0.92[ASN][1000 genomes]
rs10896603	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896604	0.92[ASN][1000 genomes]
rs10896605	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896608	0.92[ASN][1000 genomes]
rs11228995	0.92[ASN][1000 genomes]
rs11228997	0.92[ASN][1000 genomes]
rs11229003	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11229011	0.92[ASN][1000 genomes]
rs11602265	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602266	0.92[ASN][1000 genomes]
rs11603691	0.92[ASN][1000 genomes]
rs11607950	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12365472	0.92[ASN][1000 genomes]
rs12576878	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815769	0.92[ASN][1000 genomes]
rs2230649	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938863	0.84[ASN][1000 genomes]
rs4938864	0.92[ASN][1000 genomes]
rs61888886	0.92[ASN][1000 genomes]
rs61888887	0.92[ASN][1000 genomes]
rs61888888	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7106462	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111339	0.92[ASN][1000 genomes]
rs7129491	0.92[ASN][1000 genomes]
rs7951793	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57103800-57110000	Weak transcription	Fetal Brain Female	brain
2	chr11:57104000-57106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57104000-57106800	Weak transcription	Fetal Brain Male	brain
4	chr11:57104000-57107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
7	chr11:57104200-57117000	Weak transcription	Adipose Nuclei	Adipose
8	chr11:57104200-57117000	Weak transcription	Liver	Liver
9	chr11:57104200-57119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:57104400-57106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:57104400-57107000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:57104400-57107000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:57104400-57107200	Weak transcription	Fetal Thymus	thymus
14	chr11:57104400-57107400	Weak transcription	K562	blood
15	chr11:57104400-57107600	Weak transcription	A549	lung
16	chr11:57104400-57109000	Weak transcription	GM12878-XiMat	blood
17	chr11:57104400-57111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:57104600-57108400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:57105400-57107000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:57105400-57107600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:57105400-57108200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:57105400-57108600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:57105800-57106600	Active TSS	Left Ventricle	heart
24	chr11:57105800-57107000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:57105800-57107200	Weak transcription	Fetal Stomach	stomach
26	chr11:57105800-57107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:57106200-57106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:57106200-57107000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr11:57106400-57106800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:57106400-57106800	Active TSS	Fetal Muscle Trunk	muscle
31	chr11:57106400-57108200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:57106400-57108400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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